Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/270400
http://purl.bioontology.org/ontology/OMIM/270400
|
|---|---|
| Preferred Name | SMITH-LEMLI-OPITZ SYNDROME |
| Synonyms |
SLOS
SLO SYNDROME
POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG
RSH SYNDROME
LETHAL ACRODYSGENITAL SYNDROME
RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SLOS
SLO SYNDROME
POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG
RSH SYNDROME
LETHAL ACRODYSGENITAL SYNDROME
RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
See more
See less
|
|---|---|
| prefLabel | SMITH-LEMLI-OPITZ SYNDROME
|
| Gene Symbol |
SLOS
DHCR7
|
| Scope Statement | Caused by mutations in the delta-7-dehydrocholesterol reductase gene (DHCR7, 602858.0001) [MOLECULAR BASIS]
Estimated incidence 1/20,000 - 1/40,000 [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 11q12-q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 270400
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0175694
|
| Moved from | 268670
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |